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Page 1
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium; Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD. Westbury SK, et al. Among authors: laffan ma. Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21. Blood. 2017. PMID: 28637664 Free PMC article.
A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH. Ghevaert C, et al. Blood. 2008 Apr 1;111(7):3407-14. doi: 10.1182/blood-2007-09-112615. Epub 2007 Dec 7. Blood. 2008. PMID: 18065693 Free article.
Endothelial von Willebrand factor regulates angiogenesis.
Starke RD, Ferraro F, Paschalaki KE, Dryden NH, McKinnon TA, Sutton RE, Payne EM, Haskard DO, Hughes AD, Cutler DF, Laffan MA, Randi AM. Starke RD, et al. Among authors: laffan ma. Blood. 2011 Jan 20;117(3):1071-80. doi: 10.1182/blood-2010-01-264507. Epub 2010 Nov 3. Blood. 2011. PMID: 21048155 Free PMC article.
Pregnancy in type 2B VWD: a case series.
Ranger A, Manning RA, Lyall H, Laffan MA, Millar CM. Ranger A, et al. Among authors: laffan ma. Haemophilia. 2012 May;18(3):406-12. doi: 10.1111/j.1365-2516.2011.02691.x. Epub 2011 Nov 14. Haemophilia. 2012. PMID: 22077376
258 results